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Nature Communications|October 30, 2022
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomesRobert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, et al.Journal of Medical Genetics|March 9, 2017
<i>PBX1</i> haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humansPauline Le Tanno, Julie Breton, Marie Bidart, et al.European Journal of Human Genetics : EJHG|November 19, 2015
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionalsMelissa Hill, Jo-Ann Johnson, Sylvie Langlois, et al.European Journal of Human Genetics : EJHG|September 6, 2023
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous returnEmily A Huth, Xiaonan Zhao, Nichole Owen, et al.American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.NPJ Genomic Medicine|March 1, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomaliesJil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, et al.American Journal of Human Genetics|May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.Pageof 15